Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.V539D
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TGFBI

NM_000358.3:p.V539D

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Grb2

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Grb2

A Novel Heterozygous TGFBI c.1613C>A Pathogenic Variant is Associated With Lattice Corneal Dystrophy in a Chinese Family.

Fu M et al.

American Journal of Ophthalmology, 2023

Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.

Zhu D et al.

International Journal of Molecular Sciences, 2023

36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S2_.xlsx › Sheet1

A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review.

Mohammadi A et al.

Iranian Journal of Basic Medical Sciences, 2020

Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders.

Christie KA et al.

Scientific Reports, 2017

29170458 (PubMed )
Supplement: 41598_2017_16279_MOESM1_ESM.pdf

Pathogenesis and treatments of TGFBI corneal dystrophies.

Han KE et al.

Progress in Retinal and Eye Research, 2016

Biochemical properties and aggregation propensity of transforming growth factor-induced protein (TGFBIp) and the amyloid forming mutants.

Lakshminarayanan R et al.

The Ocular Surface, 2015

Clinical and genetic aspects of the TGFBI-associated corneal dystrophies.

Lakshminarayanan R et al.

The Ocular Surface, 2014

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.pdf

Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.

Hou YC et al.

Molecular Vision, 2012

TGFBI gene mutations in a Korean population with corneal dystrophy.

Cho KJ et al.

Molecular Vision, 2012

Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3).

Romero P et al.

Molecular Vision, 2010

A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.

Zhang C et al.

Molecular Vision, 2009

Novel L558P mutation of the TGFBI gene found in Ukrainian families with atypical corneal dystrophy.

Pampukha VM et al.

Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 2009

Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.

Romero P et al.

Molecular Vision, 2008

TGFBI gene mutations in corneal dystrophies.

Kannabiran C et al.

Human Mutation, 2006

TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.

Chakravarthi SV et al.

Investigative Ophthalmology & Visual Science, 2005

Genetics of anterior and stromal corneal dystrophies.

Poulaki V et al.

Seminars in Ophthalmology, 0

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